Wilson's disease with myoclonus and white matter lesions

Abstract

White matter lesions (WML) and epilepsy have been occasionally seen in Wilson's disease. No cases of generalized myoclonus have been reported so far. We present a patient with psychiatric symptoms starting at age 16, followed by tremor, generalized dystonia and severe generalized myoclonus. In addition to classical findings, the MRI showed also extensive WML in temporal, parietal and frontal regions, preserving interhemispheric fibers. Necropsy revealed marked alterations of white matter, cortex and basal ganglia. We subsequently review the literature concerning WML and myoclonus in Wilson's disease.

Introduction

Wilson's disease (WD) is a hereditary disease of the copper metabolism. Clinical presentation includes hepatic, psychiatric (particularly behavioral disorders) and neurologic manifestations such as dystonia, tremor and parkinsonism. Focal epilepsy has been occasionally described but no cases of generalized myoclonus. Brain magnetic resonance imaging (MRI) characteristically shows cortical–subcortical atrophy and focal lesions, especially in basal ganglia, thalamus, and brain stem. We present a clinico-pathological report of a patient with psychiatric symptoms starting at age 16, followed by tremor, generalized dystonia, dementia and severe generalized myoclonus. The MRI showed classical findings and extensive WML. We subsequently review relevant literature.